Gene Symbol | TSFM |
Entrez Gene ID | 10102 |
Full Name | Ts translation elongation factor, mitochondrial |
Synonyms | EFTS,EFTSMT |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]. |
Disorder MIM: | |
Disorder Html: | Combined oxidative phosphorylation deficiency 3, 610505 (3) |